日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia

病例报告:两例意外发现的与DGUOK相关的线粒体DNA耗竭综合征,表现为高胰岛素血症性低血糖

Guzman, Herodes; Yazdani, Sahr; Harmon, Jennifer L; Chapman, Kimberly A; Vitola, Bernadette; Pyle, Louise; McKnight, Heather; Sigal, Winnie; Lord, Katherine; De Leon, Diva D; Merchant, Nadia; Ganetzky, Rebecca

Discovery and Functional Characterization of Two Regulatory Variants Underlying Lupus Susceptibility at 2p13.1

2p13.1 中狼疮易感性调控变异的发现和功能表征

Mehdi Fazel-Najafabadi, Harikrishna-Reddy Rallabandi, Manish K Singh, Guru P Maiti, Jacqueline Morris, Loren L Looger, Swapan K Nath

DGUOK-AS1 acts as a tumorpromoter through regulatingmiR-204-5p/IL-11 axis in breast cancer

DGUOK-AS1通过调控miR-204-5p/IL-11轴在乳腺癌中发挥促肿瘤作用。

Liang, Yiran; Ye, Fangzhou; Wang, Yajie; Li, Yalun; Li, Yaming; Song, Xiaojin; Luo, Dan; Long, Li; Han, Dianwen; Liu, Ying; Wang, Zekun; Chen, Bing; Zhao, Wenjing; Wang, Lijuan; Yang, Qifeng

Statement of Retraction: DGUOK-AS1 promotes the proliferation cervical cancer through regulating miR-653-5p/EMSY

撤稿声明:DGUOK-AS1通过调控miR-653-5p/EMSY促进宫颈癌细胞增殖

RETRACTED ARTICLE: DGUOK-AS1 promotes the proliferation cervical cancer through regulating miR-653-5p/EMSY

撤稿文章:DGUOK-AS1通过调控miR-653-5p/EMSY促进宫颈癌细胞增殖

Yan, Anqi; Chen, Guanhao; Nie, Jichan

Identification of DGUOK-AS1 as a Prognostic Factor in Breast Cancer by Bioinformatics Analysis

通过生物信息学分析鉴定DGUOK-AS1为乳腺癌的预后因子

Li, Yalun; Liang, Yiran; Ma, Tingting; Yang, Qifeng

Comment on "CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions"

关于“携带DGUOK复合杂合致病变异和mtDNA多重缺失的CPEO和线粒体肌病患者”的评论

Finsterer, Josef

CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions

慢性进行性眼外肌麻痹(CPEO)和线粒体肌病,患者携带DGUOK复合杂合致病变异和mtDNA多重缺失

Montano, V; Simoncini, C; Calì, Cassi L; Legati, A; Siciliano, G; Mancuso, M

A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome

利用iPSC衍生肝细胞进行的筛选揭示NAD+可能是治疗线粒体DNA耗竭综合征的潜在方法

Ran Jing ,James L Corbett ,Jun Cai ,Gyda C Beeson ,Craig C Beeson ,Sherine S Chan ,David P Dimmock ,Lynn Lazcares ,Aron M Geurts ,John J Lemasters ,Stephen A Duncan

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

尸检发现四名患有严重进行性肝衰竭的婴儿存在脱氧鸟苷激酶 (DGUOK) 基因突变,并伴有葡萄糖稳态受损和铁过载等特征。

Pronicka, Ewa; Węglewska-Jurkiewicz, Anna; Taybert, Joanna; Pronicki, Maciej; Szymańska-Dębińska, Tamara; Karkucińska-Więckowska, Agnieszka; Jakóbkiewicz-Banecka, Joanna; Kowalski, Paweł; Piekutowska-Abramczuk, Dorota; Pajdowska, Magdalena; Socha, Piotr; Sykut-Cegielska, Jolanta; Węgrzyn, Grzegorz